Kathryn Garber
- Department of Human Genetics
Professor
- (404) 712-9985
- kgarbe2@emory.edu
-
615 Michael Street
Suite 305J
Atlanta, GA 30322
Overview
My interests are focused on genetics education and the interpretation of DNA sequence variation. I coordinate and teach the genetics curriculum for medical students and chair the Foundations subcommittee, which oversees the preclinical medical school curriculum. I also plan and teach the genetics curriculum for physician assistant students, and I am a core faculty member for the Genetic Counseling Training Program.
I am the Director of Genomic Analysis at EGL Genetics, and my efforts there focus on the consistent and accurate interpretation of DNA sequence variation. To help with these efforts, I am the labs coordinator for the ClinVar database.
I am the past Deputy Editor of The American Journal of Human Genetics.
Academic Appointment
- Associate Professor, Emory University
Education
Degrees
- PhD from Harvard University
- BS from Tufts University
Research
Publications
-
Supporting scholarly writing: An innovative institutional education journal.
Med Educ Volume: 59 Page(s): 664 - 665
06/01/2025 Authors: Garber KB; Jenkins MM; Lewin LO -
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Genet Med Open Volume: 3 Page(s): 103430
01/01/2025 Authors: Wilcox EH; Webb RF; Tshering KC; Hughes MY; Cav H; DiStefano MT; Dziadzio H; Garber K; Gelb BD; Gripp KW -
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet Volume: 33 Page(s): 355 - 373
02/01/2024 Authors: Allen JP; Garber KB; Perszyk R; Khayat CT; Kell SA; Kaneko M; Quindipan C; Saitta S; Ladda RL; Hewson S -
Poor recall of genetics curriculum by medical students highlights barriers to use in clinical practice.
J Genet Couns Volume: 33 Page(s): 179 - 188
02/01/2024 Authors: Kapur S; Lichten L; Ali N; Garber KB -
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
Cell Mol Life Sci Volume: 80 Page(s): 345
11/03/2023 Authors: XiangWei W; Perszyk RE; Liu N; Xu Y; Bhattacharya S; Shaulsky GH; Smith-Hicks C; Fatemi A; Fry AE; Chandler K -
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain Volume: 146 Page(s): 1357 - 1372
04/19/2023 Authors: Mattison KA; Tossing G; Mulroe F; Simmons C; Butler KM; Schreiber A; Alsadah A; Neilson DE; Naess K; Wedell A -
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
Am J Med Genet A Volume: 191 Page(s): 718 - 729
03/01/2023 Authors: Valverde de Morales HG; Wang H-LV; Garber K; Cheng X; Corces VG; Li H -
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Genet Med Volume: 24 Page(s): 2167 - 2179
10/01/2022 Authors: Massingham LJ; Nuez S; Bernstein JA; Gardner DP; Parikh AS; Strovel ET; Quintero-Rivera F; Association of Professors of Human and Medical Genetics Course Directors Special Interest Group Medical Education Core Curriculum Workgroup -
A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.
Am J Med Genet A Volume: 188 Page(s): 2429 - 2433
08/01/2022 Authors: Reyes Diaz JV; Jin Y; Garber K; Cossen KM; Li Y; Jin P; Li H; Ham J-YN -
Stephen T. Warren, Ph.D. (1953-2021): A remembrance.
Am J Hum Genet Volume: 109 Page(s): 3 - 11
01/06/2022 Authors: Nelson DL; Clark J; Garber K; Glover T; Hassold T; Jin P; Orr HT; Sherman SL; Zoghbi H; Warren KL